Global Variome shared LOVD

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Phenotype #0000346621 Individual ID 00458184 Associated disease MPS Diagnosis/Initial developmental delay Diagnosis/Definite MPS2 Phenotype details see paper; ..., birth at term, weight 3880g; 15m-walk; delayed speech, 3y-two words; 4y-large proportioned child, dysmorphic face, tongue enlarged, hepatosplenomegaly, stiff joints, skeletal involvement, hearing loss Inheritance Familial, X-linked recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-07 17:27:45 +01:00 (CET) Date last edited N/A

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